Rapsyn第2外显子基因多态性与重症肌无力的相关性研究
发布时间：2018-12-15 13:30
【摘要】：目的：通过分析突触受体相关蛋白(receptor-associated protein at the synapse, rapsyn)基因单核苷酸多态性(single nucleotide polymorphism, SNP),研究其与重症肌无力(myasthenia gravis, MG)的关系,以期达到为MG患者发病机制提供新的依据,且为MG的诊断治疗提供新方法。 方法：应用rapsyn基因第2外显子的引物,对31例MG患者和42例正常人的全血中提取的DNA做扩增,对扩增产物提纯后测序,测序结果和野生型rapsyn基因第2外显子基因进行比对,并分析存在的SNP与MG的关联性。 结果：通过样本测序结果与野生型rapsyn第2外显子基因比对,发现存在SNP,对应的核苷酸序列由TAT变成了TAC,氨基酸仍为酪氨酸(Tyr)。患者组有9例碱基T突变为C,等位基因T的基因频率为38.7%,等位基因C的基因频率为61.3%。正常组有12例碱基T突变为C,等位基因T的基因频率为42.9%,等位基因C的基因频率为57.1%。3种基因型TT、TC、CC在患者组(6.5%V64.5%V29.0%)和对照组(11.9%V61.9%V26.2%)中无显著性差异,遗传模式分析结果显示,携带CC基因型对照组和患者组之间无显著差异。统计学分析发现该SNP在患者组和正常组的基因型与等位基因频率均无统计学意义,与MG的发病无相关性。 结论：rapsyn基因第2外显子存在SNP,但通过统计学分析,此SNP在患者组和正常组的基因型与等位基因频率均无差异,与MG的发病无相关性。但是仍需扩大样本量进行研究。
[Abstract]:Objective: to study the relationship between synaptic receptor-associated protein (receptor-associated protein at the synapse, rapsyn) and myasthenia gravis (myasthenia gravis, MG) by single nucleotide polymorphism (single nucleotide polymorphism, SNP),). To provide a new basis for the pathogenesis of MG patients, and to provide a new method for the diagnosis and treatment of MG. Methods: using the primers of exon 2 of rapsyn gene, the DNA extracted from the whole blood of 31 patients with MG and 42 normal subjects were amplified. The amplified products were sequenced and sequenced. The results were compared with those of wild type rapsyn gene exon 2. The relationship between SNP and MG is analyzed. Results: by comparing the sequence of samples with that of wild type rapsyn exon 2, it was found that the nucleotide sequence corresponding to SNP, changed from TAT to TAC, amino acid and was still tyrosine (Tyr). In the patient group, the base T mutation was C, the allele T gene frequency was 38.7, and the allele C gene frequency was 61.3%. In normal group, there were 12 cases of base T mutation to C, allele T gene frequency was 42.9 and allele C gene frequency was 57.1.3 genotypes TT,TC,. There was no significant difference in CC between the patient group (6.5V 64.5V 29.0%) and the control group (11.9V 61.9V 26.2%). The results of genetic pattern analysis showed that there was no significant difference between the control group and the patient group with CC genotype. Statistical analysis showed that there was no significant difference in genotype and allele frequency of SNP between patient group and normal group, and there was no correlation between genotype and allele frequency of MG. Conclusion: there is SNP, in exon 2 of rapsyn gene. By statistical analysis, there is no difference in genotype and allele frequency of SNP between patient group and normal group, and there is no correlation between SNP and the pathogenesis of MG. But there is still a need to expand the sample size for research.
【学位授予单位】：延边大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R746.1
本文编号：2380699
[Abstract]:Objective: to study the relationship between synaptic receptor-associated protein (receptor-associated protein at the synapse, rapsyn) and myasthenia gravis (myasthenia gravis, MG) by single nucleotide polymorphism (single nucleotide polymorphism, SNP),). To provide a new basis for the pathogenesis of MG patients, and to provide a new method for the diagnosis and treatment of MG. Methods: using the primers of exon 2 of rapsyn gene, the DNA extracted from the whole blood of 31 patients with MG and 42 normal subjects were amplified. The amplified products were sequenced and sequenced. The results were compared with those of wild type rapsyn gene exon 2. The relationship between SNP and MG is analyzed. Results: by comparing the sequence of samples with that of wild type rapsyn exon 2, it was found that the nucleotide sequence corresponding to SNP, changed from TAT to TAC, amino acid and was still tyrosine (Tyr). In the patient group, the base T mutation was C, the allele T gene frequency was 38.7, and the allele C gene frequency was 61.3%. In normal group, there were 12 cases of base T mutation to C, allele T gene frequency was 42.9 and allele C gene frequency was 57.1.3 genotypes TT,TC,. There was no significant difference in CC between the patient group (6.5V 64.5V 29.0%) and the control group (11.9V 61.9V 26.2%). The results of genetic pattern analysis showed that there was no significant difference between the control group and the patient group with CC genotype. Statistical analysis showed that there was no significant difference in genotype and allele frequency of SNP between patient group and normal group, and there was no correlation between genotype and allele frequency of MG. Conclusion: there is SNP, in exon 2 of rapsyn gene. By statistical analysis, there is no difference in genotype and allele frequency of SNP between patient group and normal group, and there is no correlation between SNP and the pathogenesis of MG. But there is still a need to expand the sample size for research.
【学位授予单位】：延边大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R746.1
【参考文献】
相关期刊论文 前1条
1 张星虎,许贤豪,王红,王秀云,黄煜敏,刘广志;重症肌无力患者糖皮质激素受体的观察[J];中华内科杂志;2000年10期
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